Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val MED12L 0 genome.wustl.edu 37 3 151101578 151101578 + Missense_Mutation SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 3 151101578 151101578 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4587 p.M1529I 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 59 0 0.00 32 20 38.46 89 0 0.00 44 29 39.73 OPTC 0 genome.wustl.edu 37 1 203468847 203468847 + Silent SNP A A G TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 1 203468847 203468847 A G SNP OPTC ENST00000367222 human ensembl 74_37 +1 known silent c.600 p.L200 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OPTC HGNC ENSG00000188770 tier1 - - 79 0 0.00 41 43 51.19 102 0 0.00 38 43 53.09 ARID1B 0 genome.wustl.edu 37 6 157521934 157521934 + Silent SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 6 157521934 157521934 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.4326 p.E1442 0.987 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 rs139512931 - 41 0 0.00 38 4 9.52 62 0 0.00 68 10 12.82 ENSG00000258727 0 genome.wustl.edu 37 14 24037134 24037134 + R SNP G G C TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 14 24037134 24037134 G C SNP ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 tier1 - - 39 0 0.00 20 12 37.50 58 0 0.00 32 22 40.00 TRIML1 0 genome.wustl.edu 37 4 189064937 189064937 + R SNP C C T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 4 189064937 189064937 C T SNP TRIML1 ENST00000507581 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIML1 HGNC ENSG00000184108 tier1 - - 43 0 0.00 21 16 43.24 73 0 0.00 27 29 51.79 ADAM6 0 genome.wustl.edu 37 14 106437040 106437040 + R SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 14 106437040 106437040 G A SNP ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 - - 95 0 0.00 41 42 50.60 53 0 0.00 35 16 31.37 RIMS1 0 genome.wustl.edu 37 6 72960727 72960727 + Nonsense_Mutation SNP C C T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 6 72960727 72960727 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known nonsense c.2476 p.R826* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 35 0 0.00 16 15 48.39 115 0 0.00 57 44 43.56 TMEM244 0 genome.wustl.edu 37 6 130166922 130166922 + Missense_Mutation SNP C C T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 6 130166922 130166922 C T SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known missense c.109 p.V37M 0.000 pfam_Integral_membrane_SYS1-rel pfam_Integral_membrane_SYS1-rel - no_errors TMEM244 HGNC ENSG00000203756 tier1 rs143949103 GMAF=0.0005 41 0 0.00 27 22 44.90 99 0 0.00 43 35 44.87 POLR3C 0 genome.wustl.edu 37 1 145598254 145598254 + Missense_Mutation SNP C C T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 1 145598254 145598254 C T SNP POLR3C ENST00000334163 human ensembl 74_37 -1 known missense c.999 p.M333I 1.000 pfam_R_pol_III_Rpc82_C pfam_R_pol_III_Rpc82_C,pfam_R_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 tier1 - - 46 0 0.00 26 13 33.33 77 0 0.00 42 32 43.24 FAM184A 0 genome.wustl.edu 37 6 119345393 119345393 + Nonsense_Mutation SNP C C A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 6 119345393 119345393 C A SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known nonsense c.745 p.E249* 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 79 0 0.00 61 11 15.28 134 0 0.00 109 23 17.42 GPR144 0 genome.wustl.edu 37 9 127232787 127232787 + Missense_Mutation SNP C C A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 9 127232787 127232787 C A SNP GPR144 ENST00000334810 human ensembl 74_37 +1 known missense c.2573 p.P858H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 - - 130 0 0.00 77 27 25.96 2 0 0.00 10 3 23.08 TUBA8 0 genome.wustl.edu 37 22 18609580 18609580 + Missense_Mutation SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 22 18609580 18609580 G A SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.835 p.E279K 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 tier1 - - 78 0 0.00 35 38 52.05 43 0 0.00 40 28 41.18 SLC22A14 0 genome.wustl.edu 37 3 38350537 38350537 + Missense_Mutation SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 3 38350537 38350537 G A SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.868 p.A290T 0.031 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 tier1 - - 129 0 0.00 103 56 35.22 77 0 0.00 42 21 33.33 TENM3 0 genome.wustl.edu 37 4 183267832 183267832 + Silent SNP A A T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 4 183267832 183267832 A T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.261 p.G87 0.995 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 79 0 0.00 84 8 8.70 143 0 0.00 101 20 16.39 GDF3 0 genome.wustl.edu 37 12 7843092 7843092 + Silent SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 12 7843092 7843092 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known silent c.477 p.T159 0.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 tier1 - - 43 0 0.00 23 33 58.93 80 0 0.00 54 42 43.75 EZR 0 genome.wustl.edu 37 6 159206479 159206479 + Missense_Mutation SNP A A G TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 6 159206479 159206479 A G SNP EZR ENST00000337147 human ensembl 74_37 -1 known missense c.329 p.I110T 0.998 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 tier1 - - 98 0 0.00 55 36 39.56 56 0 0.00 32 24 42.86 LRRIQ3 0 genome.wustl.edu 37 1 74649253 74649253 + Missense_Mutation SNP T T A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 1 74649253 74649253 T A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.116 p.H39L 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 44 0 0.00 13 12 48.00 81 0 0.00 49 38 43.68 SCN9A 0 genome.wustl.edu 37 2 167168143 167168143 + Missense_Mutation SNP C C A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 2 167168143 167168143 C A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.124 p.D42Y 0.843 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 62 0 0.00 35 20 36.36 45 0 0.00 19 24 55.81 CRB1 0 genome.wustl.edu 37 1 197390617 197390617 + Frame_Shift_Del DEL G G - TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 1 197390617 197390617 G - DEL CRB1 ENST00000367400 human ensembl 74_37 +1 known frame_shift_del c.1659 p.V554fs 0.002 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 60 0 0.00 33 40 54.79 116 0 0.00 55 38 40.86 LOC399715 0 genome.wustl.edu 37 10 6369914 6369914 + R DEL G G - TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 10 6369914 6369914 G - DEL LOC399715 ENST00000399868 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-563J2.2 Clone_based_vega_gene ENSG00000215244 tier1 75 0 0.00 56 36 39.13 117 0 0.00 86 45 34.35 FAM204A 0 genome.wustl.edu 37 10 120081869 120081869 + Missense_Mutation SNP C C T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 10 120081869 120081869 C T SNP FAM204A ENST00000470476 human ensembl 74_37 -1 known missense c.598 p.V200M 0.000 NULL NULL - no_errors FAM204A HGNC ENSG00000165669 tier1 - - 22 0 0.00 2 13 86.67 87 0 0.00 3 47 94.00 PTEN 0 genome.wustl.edu 37 10 89692895 89692895 + Missense_Mutation SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 10 89692895 89692895 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.379 p.G127R 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 - - 90 0 0.00 6 38 86.36 56 0 0.00 1 17 94.44 TTC6 0 genome.wustl.edu 37 14 38091983 38091983 + Silent SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 14 38091983 38091983 G A SNP TTC6 ENST00000533625 human ensembl 74_37 +1 known silent c.714 p.E238 0.000 NULL NULL - no_errors TTC6 HGNC ENSG00000139865 tier1 - - 12 0 0.00 9 4 30.77 12 0 0.00 5 10 66.67 UBA6-AS1 0 genome.wustl.edu 37 4 68928384 68928384 + R SNP T T C TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 4 68928384 68928384 T C SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 tier1 - - 78 0 0.00 56 29 34.12 21 0 0.00 9 4 30.77 SCN1A 0 genome.wustl.edu 37 2 166897761 166897761 + Missense_Mutation SNP C C T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 2 166897761 166897761 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.2395 p.V799M 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 36 0 0.00 44 4 8.33 102 0 0.00 91 7 7.14 GDF2 0 genome.wustl.edu 37 10 48416492 48416492 + Missense_Mutation SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 10 48416492 48416492 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.202 p.R68C 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 48 0 0.00 64 6 8.57 136 0 0.00 102 5 4.59 AR 0 genome.wustl.edu 37 X 66765155 66765155 + Missense_Mutation SNP T T A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 X 66765155 66765155 T A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.167 p.L56Q 0.942 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 15 0 0.00 17 5 22.73 0 0 0.00 1 0 0.00 LOC440040 0 genome.wustl.edu 37 11 49830158 49830158 + R SNP G G A TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 11 49830158 49830158 G A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.189 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 169 0 0.00 102 58 36.25 0 0 0.00 0 0 0.00 SH2B1 0 genome.wustl.edu 37 16 28875215 28875223 + R DEL GCCGCCGCC GCCGCCGCC - TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 GCCGCCGCC GCCGCCGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 16 28875215 28875223 GCCGCCGCC - DEL SH2B1 ENST00000563674 human ensembl 74_37 +1 known rna NULL NULL 0.968:0.615:0.267:1.000:1.000:1.000:0.999:0.964:0.945 - - - no_errors SH2B1 HGNC ENSG00000178188 tier1 1 0 0.00 1 1 50.00 1 0 0.00 1 1 50.00 CDC42BPA 0 genome.wustl.edu 37 1 227257397 227257397 + R SNP G G T TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 1 227257397 227257397 G T SNP CDC42BPA ENST00000488131 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 31 0 0.00 18 3 14.29 76 0 0.00 85 2 2.30 SMG5 0 genome.wustl.edu 37 1 156237384 156237423 + Frame_Shift_Del DEL TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC - TCGA-IE-A4EK-01A-11D-A24N-09 TCGA-IE-A4EK-10A-01D-A24N-09 TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56681386-d407-4f53-ae4f-6c04437652f7 0989420d-2639-41ee-912d-3526312eeb65 1 156237384 156237423 TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC - DEL SMG5 ENST00000361813 human ensembl 74_37 -1 known frame_shift_del c.994_955 p.D319fs 0.982:1.000:1.000:0.998:0.963:0.996:0.995:0.914:0.996:0.996:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 tier1 58 0 0.00 31 2 6.06 58 0 0.00 31 2 6.06